Acute myeloid leukemia in a 23-year-old patient with Beckwith-Wiedemann syndrome

Children with Beckwith-Wiedemann syndrome (BWS) are at an increased risk of developing malignancies early in life. Several malignancies have been described in this fetal overgrowth syndrome; however, to date, only one hematological malignancy developing during early childhood has been reported. We present a patient with BWS developing acute myeloid leukemia at the age of 23. Loss of genomic imprinting of growth regulatory genes is thought to be the cause of BWS. For one of those genes, IGF2, an important role in childhood overgrowth syndromes as well as in the development of adult acute leukemia has been suggested, providing a possible explanation for our presented case.